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Gene JAK2
Variant I540T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions JAK2 I540T does not lie within any known functional domains of the Jak2 protein (UniProt.org). I540T has been identified in the scientific literature (PMID: 21497288, PMID: 37834019), but has not been biochemically characterized and therefore, its effect on Jak2 protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

JAK2 mutant JAK2 exon12 JAK2 I540T

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Transcript NM_004972.4
gDNA chr9:g.5070030T>C
cDNA c.1619T>C
Protein p.I540T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001322194 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322196 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322195 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322194.1 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322195.2 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_004972.4 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322194.2 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_004972.3 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322196.2 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_004972 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322196.1 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38
NM_001322195.1 chr9:g.5070030T>C c.1619T>C p.I540T RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
JAK2 I540T unknown